Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.E114G

DES

1,044 papers

RefSeq Summary

This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plas...

Pfam Domains

Filament_headaa 9–106UCSCIntermediate filament head (DNA binding) region
Filamentaa 107–415UCSCIntermediate filament protein

Gene Aliases

HGNC Name

desmin

HGNC Alias Symbols

CMD1I; CSM1; CSM2; LGMD2R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001927.4
p.E114G
c.341A>G
Surrounding Variants
2 papers
NM_001927.4
p.L115del1
c.343_344delCTC
13 papers
NM_001927.4
p.L115I
c.343C>A
2 papers
NM_001927.4
p.L115F
c.343C>T
1 paper
NM_001927.4
p.L115_F119del0
c.344_355del12
1 paper
NM_001927.4
p.L115P
c.344T>C
6 papers
NM_001927.4
p.L115insFs
c.345dupC
2 papers
NM_001927.4
p.Q113fs
c.337_338fs
1 paper
NM_001927.4
p.Q113delFs
c.338_339delAG
1 paper
NM_001927.4
p.Q113fs
c.337_338fs
14 papers
NM_001927.4
p.E114del1
c.340_341delGAG
6 papers
NM_001927.4
p.N116D
c.346A>G
4 papers
NM_001927.4
p.N116fs
c.346_347fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."